FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term immunodeficiency 61 ID (Ontology) DOID:0111999 (Human Disease)
Definition A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.
Also Known As "IMD61"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 immunodeficiency 61       1
 for disease ribbon | immunodeficiency 61       1
 model of | immunodeficiency 61       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__B cell deficiency_____________|
                                  immunodeficiency 61  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
B cell deficiency
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "IMD61" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C538057
MIM:300310
UMLS_CUI:C1845903